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Items: 10

1.

Focal dermal hypoplasia

Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment. [from GeneReviews]

MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
2.

Adams-Oliver syndrome 5

Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies. [from GeneReviews]

MedGen UID:
863407
Concept ID:
C4014970
Disease or Syndrome
3.

Fuhrmann syndrome

This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25). [from SNOMEDCT_US]

MedGen UID:
346429
Concept ID:
C1856728
Disease or Syndrome
4.

Autosomal dominant deafness - onychodystrophy syndrome

The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962). See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation. [from OMIM]

MedGen UID:
382676
Concept ID:
C2675730
Disease or Syndrome
5.

Keipert syndrome

Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes (Amor et al., 2019). [from OMIM]

MedGen UID:
338088
Concept ID:
C1850627
Disease or Syndrome
6.

Ulna hypoplasia-intellectual disability syndrome

Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. [from ORDO]

MedGen UID:
341275
Concept ID:
C1848650
Disease or Syndrome
7.

Zimmermann-laband syndrome 3

Zimmermann-Laband syndrome-3 (ZLS3) is characterized by developmental delay, intellectual disability, coarse face, gingival hyperplasia, and nail hypoplasia/aplasia (Bauer et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of Zimmermann-Laband syndrome, see ZLS1 (135500). [from OMIM]

MedGen UID:
1684740
Concept ID:
C5231447
Disease or Syndrome
8.

Ectodermal dysplasia 5, hair/nail type

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. [from OMIM]

MedGen UID:
767022
Concept ID:
C3554108
Disease or Syndrome
9.

Nonsyndromic congenital nail disorder 9

Although nails appear normal at birth, dystrophic changes develop within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails (summary by Rafiq et al., 2004). This disorder is referred to here as nonsyndromic congenital nail disorder-9 (NDNC9). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). [from OMIM]

MedGen UID:
481577
Concept ID:
C3279947
Disease or Syndrome
10.

Absent toenail

Congenital absence of the toenail. [from HPO]

MedGen UID:
336719
Concept ID:
C1844555
Congenital Abnormality; Finding
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